Table 1.
Clinical Features of all Eight Cases [F: Female, M: Male, + : Present; − :Absent and Uncommon Clinical Features Were Marked in Bold].
| Case 1 | Case 2 | Case 3 | Case 4 | Case 5 | Case 6 | Case 7 | Case 8 | |
|---|---|---|---|---|---|---|---|---|
| Age at presentation | 11 months | 14 months | 10 months | 15 months | 18 months | 11 months | 15 months | 7 months |
| Sex | F | F | M | M | F | F | F | F |
| Consanguinity | + | + | − | + | − | − | − | + |
| Seizure | − | + | + | + | + | + | + | − |
| Developmental delay or regression | + | + | + | + | + | + | + | + |
| Hyper-/ Hypo- tonia | Hypo | Hypo | Hypo | Hyper | Hypo | Hypo | Hyper | − |
| Micro- / Macro- cephaly | − | Macro | Micro | Macro | − | − | Macro | − |
| Skin changes | − | + | − | − | + | + | + | + |
| Organomegaly | + | − | + | − | + | + | − | − |
| Hyperacusis | + | + | − | − | − | + | − | − |
| Cherry red spots on the macula | + | + | + | + | + | + | + | + |
| Cardiac involvement | + | − | − | + | − | − | − | − |
| Current status | Died at the age of 2 years | Could not contact | Died at the age of 18 months | Could not contact | Died at the age of 2 year | Alive. (1 year and 11 months) | Died at the age of 1 year and nine-month | Could not contact |